Canonical Allele Identifier: CA119960

Gene: SCNN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23380736T>C , CM000678.2:g.23380736T>C	GRCh38
NC_000016.9:g.23392057T>C , CM000678.1:g.23392057T>C	GRCh37
NC_000016.8:g.23299558T>C	NCBI36
NG_011908.1:g.83467T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000336.3:c.1858T>C MANE Select	NP_000327.2:p.Tyr620His
ENST00000343070.7:c.1858T>C MANE Select	ENSP00000345751.2:p.Tyr620His
NM_000336.2:c.1858T>C	NP_000327.2:p.Tyr620His
ENST00000307331.9:c.1993T>C	ENSP00000302874.5:p.Tyr665His
ENST00000343070.6:c.1858T>C	ENSP00000345751.2:p.Tyr620His
ENST00000564275.5:c.*863T>C	ENSP00000457754.1:n.*863T>C
ENST00000568085.5:c.1750T>C	ENSP00000455673.1:p.Tyr584His
ENST00000568923.5:c.1777T>C	ENSP00000456309.1:p.Tyr593His
XM_011545913.1:c.1891T>C	XP_011544215.1:p.Tyr631His
XM_011545913.2:c.1891T>C	XP_011544215.1:p.Tyr631His
XM_011545914.1:c.1876T>C	XP_011544216.1:p.Tyr626His
XM_017023525.1:c.1915T>C	XP_016879014.1:p.Tyr639His
XM_017023526.1:c.1807T>C	XP_016879015.1:p.Tyr603His